ABCA7 p.Arg1237=
c.3711C>T · rs535290674 · VCV493241
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0134%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -11 | GERP -3.4 |
| Overall | ||
| CADD | 0.07 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0134%
East Asian · 6/44,834 alleles
Filtering AF
0.00579%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00394%
Overall
0.00331%
53/1,599,306 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0134% | 7,472 |
| South Asian | 0.00882% | 11,333 |
| African / African-American | 0.004% | 24,979 |
| Admixed American | 0.00335% | 29,840 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,120 |
| European (non-Finnish) | 0.00272% | 36,822 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ABCA7
- Protein
- p.Arg1237=
- Coding
- c.3711C>T
- MANE Select
- NM_019112
- dbSNP
- rs535290674
- Type
- single nucleotide variant
- Location
- chr19:1054326 (GRCh38)
- Gene constraint
- LOEUF 1.368 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.77 · 6 PDB
- Residue 1237
- a β-strand
Similar variants
- ABCA7 p.Arg1237His Benign ★★ ⚠ same residue
- ABCA7 c.2684+5G>A Uncertain significance ★★ same type
- ABCA7 c.3578-2A>G Uncertain significance ★★ same type
- ABCA7 p.Arg1026Cys Uncertain significance ★★ ⚠ same type
- ABCA7 p.Arg652Cys Uncertain significance ★★ ⚠ same type
- ABCA7 p.Arg880Trp Uncertain significance ★★ ⚠ same type
- ABCA7 p.Asp1452Asn Uncertain significance ★★ ⚠ same type
- ABCA7 p.Asp2085Asn Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/abca7-p-arg1237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown